New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report

Table 1 Clinical and biochemical parameters and FibroScan data of tested family members on the day of the first presentation

TJP2 status	P1.1	P1.2	P2.1	P2.2	P2.3	P2.4	P2.5	P2.6	P2.7	P2.8	P2.9	P2.10-12
	+/wt	+/wt	+/+	+/wt	wt/wt	+/+	+/+	+/+	+/+	+/wt	+/+	NA
Gender	M	F	M	F	M	M	M	F	M	M	M	F, F, F
Age in 2018 (yr)	60	55	36	32	31	25	23	21	19	16	15	NA
ALAT (< 45 female; < 70 male; (U/L)	16	19	114	15	10	43	37	44	97	21	22	NA
Bilirubin (5-25 μmol/L)	8	4.7	29	4.4	14	12	45	10	17	14	11	NA
Alkaline phosphatase (35-105 U/L)	101	104	120	65	50	112	212	117	115	104	121	NA
GGT (10-80 U/L)	72	21	61	14	12	44	156	55	86	12	15	NA
Coagulation II, VII, X/INR	1.0	1.2	1.2	0.81	1	1.2	1.7	1.1	0.73	0.75	0.72	NA
Albumin (36-48 g/L)	44	41	36	37	44	46	29	37	27	44	47	NA
Creatinine (60-105 μmol/L)	68	40	71	49	62	68	66	37	71	67	53	NA
Cholesterol (< 5.0 mmol/L)	5.7	6.5	5	4.3	3.4	3.8	3.2	4.4	NA	3.3	4.7	NA
HDL cholesterol (> 1.0 mmol/L)	0.91	1.1	1.8	2.0	0.92	2	1.7	1.9	NA	1.1	1.3	NA
LDL cholesterol (< 3 mmol/L)	3.3	3.7	2.7	1.9	2.2	1.4	1.1	2.2	NA	1.8	3	NA
Triglyceride (< 2 mmol/L)	3.3	3.5	1.1	0.9	1.1	1	1	0.7	NA	0.9	1	NA
Leucocytes (3.5-10.0 10^9/L)	11.7	4.72	4.19	6.96	5.8	7.03	4.25	6.44	5.78	7.8	5.7	NA
Hemoglobin (> 7.3 female; > 8.3 male, mmol/L)	9.4	7.8	9.3	7.5	9.9	10.1	7.8	8	9.9	10.3	9.6	NA
Platelets (165-400, × 109/L)	335	405	77	266	229	218	64	191	210	379	339	NA
sCD163 (0.69-3.86 mg/L)	2.32	1.94	NA	1.90	2.95	3.96	5.23	6.03	3.91	1.31	1.75	NA
FibroScan (kPa)	4.4	3.3	75	4-7	6.6	8.1	24	9.1	5.9	5.7	7.8	NA

TJP2 status is indicated by +/+ (homozygous) +/WT (heterozygous), and wt/wt indicating wild type. NA: Not applicable; WT: Wild type.